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Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1

Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be elucidated. We reprogrammed fibroblasts of a...

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Main Authors: Lenz, Dominic (Author) , Staufner, Christian (Author) , Wächter, Selina (Author) , Hagedorn, Maike (Author) , Ebersold, Juliane (Author) , Göhring, Gudrun (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Jung-Klawitter, Sabine (Author)
Format: Article (Journal)
Language:English
Published: 22 March 2019
In: Stem cell research
Year: 2019, Volume: 37
ISSN:1876-7753
DOI:10.1016/j.scr.2019.101428
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.scr.2019.101428
Verlag, kostenfrei, Volltext: http://www.sciencedirect.com/science/article/pii/S1873506119300583
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Author Notes:Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, Stefan Kölker, Georg F. Hoffmann, Sabine Jung-Klawitter
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Summary:Variants in SCYL1 can cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). The encoded protein is involved in intracellular trafficking between Golgi and ER, specific mechanisms are still to be elucidated. We reprogrammed fibroblasts of a 2years old male patient with CALFAN Syndrome due to a homozygous nonsense variant in SCYL1 (c.[1882C>T]; c.[1882C>T]/p.[Gln628*]; p.[Gln628*]) and generated DHMCi005-A using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Cells showed a normal karyotype. Pluripotency was proven using immunohistochemistry, RT-PCR, and flow cytometry. Differentiation into all germ layers was shown using the STEMdiff™ Trilineage Differentiation Kit (Stemcell Technologies).
Item Description:Gesehen am 27.05.2019
Physical Description:Online Resource
ISSN:1876-7753
DOI:10.1016/j.scr.2019.101428

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